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Page 1
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
Urreizti R, Lopez-Martin E, Martinez-Monseny A, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan M, Grinberg D, Bermejo-Sánchez E, Balcells S. Urreizti R, et al. Orphanet J Rare Dis. 2020 Feb 10;15(1):44. doi: 10.1186/s13023-020-1317-9. Orphanet J Rare Dis. 2020. PMID: 32041641 Free PMC article.
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.
López-Márquez A, Morín M, Fernández-Peñalver S, Badosa C, Hernández-Delgado A, Natera-de Benito D, Ortez C, Nascimento A, Grinberg D, Balcells S, Roldán M, Moreno-Pelayo MÁ, Jiménez-Mallebrera C. López-Márquez A, et al. Int J Mol Sci. 2022 Apr 16;23(8):4410. doi: 10.3390/ijms23084410. Int J Mol Sci. 2022. PMID: 35457228 Free PMC article.
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A. Carrera-García L, et al. Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14. Am J Med Genet A. 2019. PMID: 30868735 Review.
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Milev MP, Stanga D, Schänzer A, Nascimento A, Saint-Dic D, Ortez C, Natera-de Benito D, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M, Jimenez-Mallebrera C. Milev MP, et al. Sci Rep. 2019 Oct 1;9(1):14036. doi: 10.1038/s41598-019-50415-6. Sci Rep. 2019. PMID: 31575891 Free PMC article.
Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases.
Pijuan J, Rodríguez-Sanz M, Natera-de Benito D, Ortez C, Altimir A, Osuna-López M, Roura M, Ugalde M, Van de Vondel L, Reina-Castillón J, Fons C, Benítez R, Nascimento A, Hoenicka J, Palau F. Pijuan J, et al. J Mol Diagn. 2021 Jan;23(1):71-90. doi: 10.1016/j.jmoldx.2020.10.006. Epub 2020 Oct 24. J Mol Diagn. 2021. PMID: 33223419 Free article.
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.
Natera-de Benito D, Ortez C, Jou C, Jimenez-Mallebrera C, Codina A, Carrera-García L, Expósito-Escudero J, Cesar S, Martorell L, Gallano P, Gonzalez-Quereda L, Cuadras D, Colomer J, Yubero D, Palau F, Nascimento A. Natera-de Benito D, et al. Pediatr Neurol. 2021 Feb;115:50-65. doi: 10.1016/j.pediatrneurol.2020.11.002. Epub 2020 Nov 5. Pediatr Neurol. 2021. PMID: 33333461
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Justel M, Jou C, Sariego-Jamardo A, Juliá-Palacios NA, Ortez C, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina A, Dominguez-Carral J, Muxart J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estevez-Arias B, Musokhranova U, Olivella M, Oyarzábal A, Jimenez-Mallebrera C, Domínguez-González C, Nascimento A, García-Cazorla À, Natera-de Benito D. Justel M, et al. J Med Genet. 2023 Oct;60(10):965-973. doi: 10.1136/jmg-2022-109132. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197784 Free PMC article.
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.
Natera-de Benito D, Sola A, Sousa PR, Boronat S, Expósito-Escudero J, Carrera-García L, Ortez C, Jou C, Muchart J, Rebollo M, Armstrong J, Colomer J, Garcia-Cazorla À, Hoenicka J, Palau F, Nascimento A. Natera-de Benito D, et al. Pediatr Neurol. 2021 Jun;119:40-44. doi: 10.1016/j.pediatrneurol.2021.03.005. Epub 2021 Mar 26. Pediatr Neurol. 2021. PMID: 33894639
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Natera-de Benito D, Jurgens JA, Yeung A, Zaharieva IT, Manzur A, DiTroia SP, Di Gioia SA, Pais L, Pini V, Barry BJ, Chan WM, Elder JE, Christodoulou J, Hay E, England EM, Munot P, Hunter DG, Feng L, Ledoux D, O'Donnell-Luria A, Phadke R, Engle EC, Sarkozy A, Muntoni F. Natera-de Benito D, et al. Hum Mutat. 2022 Apr;43(4):487-498. doi: 10.1002/humu.24333. Epub 2022 Feb 3. Hum Mutat. 2022. PMID: 35077597 Free PMC article.
90 results